Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies (NEDMABA)

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OMIM 56 618622

OMIM : ⁵⁶ Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019). (618622)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies, is also known as nedmaba. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies is SMPD4 (Sphingomyelin Phosphodiesterase 4). Affiliated tissues include brain, cortex and cerebellum.

Clinical features from OMIM:

618622

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies.